The 9-bp deletion in region V of mitochondrial DNA: evidence of mutation recurrence

Hum Genet. 1995 Aug;96(2):225-8. doi: 10.1007/BF00207385.


A deletion of one of the two copies of a 9-bp direct repeat sequence (CCCCCTCTA) in region V of mitochondrial DNA has previously been used as a polymorphic anthropological marker for people of east Asian origin, and to a lesser extent, in Oceanian and African populations. We report the presence of the 9-bp deletion in homoplasmy in skeletal muscle fibers and lymphocytes of a Spanish Caucasian individual. Other mitochondrial DNA polymorphisms associated with the 9-bp deletion characteristic of other populations were not present. Our results suggest that the 9-bp deletion probably originated independently in the maternal lineage of the propositus, and that it can thus be described as a recurrent mutation.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Anthropology / methods
  • Base Sequence
  • DNA, Mitochondrial / genetics*
  • Genetic Markers / genetics*
  • Humans
  • Molecular Sequence Data
  • Mutagenesis*
  • Racial Groups / genetics
  • Sequence Deletion*
  • Spain
  • White People / genetics*


  • DNA, Mitochondrial
  • Genetic Markers